Variant (rsID / SNP)
rs193922390
rs193922390 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,884,860. Clinical significance in the table: Pathogenic.
Reference-table entries
MYH7Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23884860
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
- Allele change
- Missense_R1712Q
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 1|Cardiomyopathy|Asymmetric septal hypertrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.